Unmet needs in Cushing’s syndrome: the patients’ perspective

Abstract

Background: Cushing’s syndrome (CS) is a rare condition of chronically elevated cortisol levels resulting in diverse comorbidities, many of which endure beyond successful treatment affecting quality of life. Few data are available concerning patients’ experiences of diagnosis, care and persistent comorbidities. Objective: To assess CS patients’ perspectives on the diagnostic and care journey to identify unmet therapeutic needs. Methods: A 12-item questionnaire was circulated in 2019 by the World Association for Pituitary Organisations. A parallel, 13-item questionnaire assessing physician perceptions on CS patient experiences was performed. Results: 320 CS patients from 30 countries completed the questionnaire; 54% were aged 35- 54 and 88% were female; 41% were in disease remission. The most burdensome symptom was obesity/weight gain (75%). For 49% of patients time to diagnosis was over 2 years. Following treatment, 88.4% of patients reported ongoing symptoms including, fatigue (66.3%), muscle weakness (48.8%) and obesity/weight gain (41.9%). Comparisons with delay in diagnosis were significant for weight gain (p=0.008) and decreased libido (p=0.03). Forty physicians completed the parallel questionnaire which showed that generally, physicians poorly estimated the prevalence of comorbidities, particularly initial and persistent cognitive impairment. Only a minority of persistent comorbidities (occurrence in 1.3-66.3%; specialist treatment in 1.3-29.4%) were managed by specialists other than endocrinologists. 63% of patients were satisfied with treatment. Conclusion: This study confirms the delay in diagnosing CS. The high prevalence of persistent comorbidities following remission and differences in perceptions of health between patients and physicians highlight a probable deficiency in effective multidisciplinary management for CS comorbidities.

Cushing's syndrome in the elderly: data from the European Registry on Cushing's syndrome

“…A possible explanation for these discrepant results may be that severity of mood disorders may be underestimated in the elderly due to their tendency to underreport depressive symptoms (21). Indeed, affective symptoms in CS patients are often underecognized by the clinicians, which may lead to an inaccurate estimation of the real prevalence of depression in this condition (22). Moreover, major depression has been demonstrated to occur less frequently in older subjects, thus further complicating the recognition of symptoms ( 23).…”

The promising role of risk scoring system for Cushing syndrome: Time to reconsider current screening recommendations

“…Simple screening tests to discriminate CS are needed as early diagnosis can prevent associated comorbidities and mortality ( 27 , 28 ). Moreover, the appropriate use of testing to screen patient-at-risk is crucial because delayed diagnosis may be associated with symptoms after treatment ( 29 ). CS is an infrequent disease that has a low prevalence so its screening test must have a high specificity to avoid false-positive results ( 30 , 31 ).…”